title: Pathology of congenital deafness. Present status and future priorities.
abstract: The pathology of congenital hearing loss is as varied as the etiologies. Severe external ear anomalies, such as microtia, and middle ear defects have a significant incidence of accompanying inner ear aplasias, more often of the vestibular than of the cochlear end-organs. Classic inner ear aplasias are discussed, including Michel, Mondini, Alexander and Scheibe. A case illustrating close resemblance between a genetically induced Scheibe malformation and rubella inner ear deformities is present. A variety of ear disorders acquired during intrauterine or neonatal life, including cytomegalic inclusion disease, hypoxia, erythroblastosis fetalis and later-onset genetic disorders are also discussed. Illustrative case histories are presented as well as priorities for future investigations into the pathology of congenital and genetic hearing loss.
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D003051:Cochlea / Q000473:pathology; D003638:Deafness / Q000151:congenital* / Q000209:etiology / Q000473:pathology; D005260:Female; D006314:Hearing Loss, Conductive / Q000151:congenital / Q000209:etiology / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000209:etiology / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D013199:Stapes / Q000473:pathology; D013701:Temporal Bone / Q000473:pathology; D014722:Vestibule, Labyrinth / Q000473:pathology; D000159:Vestibulocochlear Nerve / Q000473:pathology